SCN5A c.3923G>A ;(p.R1308H)

Variant ID: 3-38603943-C-T

NM_000335.4(SCN5A):c.3923G>A;(p.R1308H)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Identification of rare heterozygous linkage R965C-R1309H mutations in the pore-forming region of SCN5A gene associated with complex arrhythmia.

Molecular Genetics & Genomic Medicine
Lin, Yubi Y; Qin, Jiading J; Shen, Yuhui Y; Huang, Jiana J; Zhang, Zuoquan Z; Zhu, ZhiLing Z; Lu, Huifang H; Huang, Yin Y; Yin, Yuelan Y; Wang, Ani A; Jin, Lizi L; Hu, Zhenyu Z; Lin, Xiufang X; Jiang, Bin B
Publication Date: 2021-05

Variant appearance in text: rs537423012
PubMed Link: 33764691
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1613.pdf
View BVdb publication page